Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nat Genet
; 40(2): 155-7, 2008 Feb.
Article
em En
| MEDLINE
| ID: mdl-18204449
ABSTRACT
The most severe forms of motoneuron disease manifest in utero are characterized by marked atrophy of spinal cord motoneurons and fetal immobility. Here, we report that the defective gene underlying lethal motoneuron syndrome LCCS1 is the mRNA export mediator GLE1. Our finding of mutated GLE1 exposes a common pathway connecting the genes implicated in LCCS1, LCCS2 and LCCS3 and elucidates mRNA processing as a critical molecular mechanism in motoneuron development and maturation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
RNA Mensageiro
/
Doença dos Neurônios Motores
/
Proteínas de Transporte Nucleocitoplasmático
/
Doenças Fetais
/
Mutação
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Animals
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Finlândia